Bookedited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD.
Contents:
Overview of technical aspects and chemistries of next-generation sequencing / Ian S. Hagemann
Clinical genome sequencing / Tina M. Hambuch, John Mayfield, Shankar Ajay, Michelle Hogue, Carri-Lyn Mead and Erica Ramos
Targeted hybrid capture methods / Elizabeth C. Chastain
Amplification-based methods / Marina N. Nikiforova, William A. Laframboise and Yuri E. Nikiforov
Emerging DNA sequencing technologies / Shashikant Kulkarni and John Pfeifer
RNA-sequencing and methylome analysis / Shamika Ketkar and Shashikant Kulkarni
Base calling, read mapping, and coverage analysis / Paul Cliften
Single nucleotide variant detection using next generation sequencing / David H. Spencer, Bin Zhang and John Pfeifer
Insertions and deletions (indels) / Jennifer K. Sehn
Translocation detection using next-generation sequencing / Haley Abel, John Pfeifer and Eric Duncavage
Copy number variant detection using next-generation sequencing / Alex Nord, Stephen J. Salipante and Colin Pritchard
Reference databases for disease associations / Wendy S. Rubinstein, Deanna M. Church and Donna R. Maglott
Reporting of clinical genomics test results / Kristina A. Roberts, Rong Mao, Brendan D. O'Fallon and Elaine Lyon
Reporting software / Rakesh Nagarajan
Constitutional diseases: amplification-based next-generation sequencing / Vanessa L. Horner and Madhuri R. Hegde
Targeted hybrid capture for inherited disease panels / Sami S. Amr and Birgit Funke
Constitutional disorders: whole exome and whole genome sequencing / Benjamin D. Solomon
Somatic diseases (cancer): amplification-based next-generation sequencing / Fengqi Chang, Geoffrey L. Liu, Cindy J. Liu and Marilyn M. Li
Targeted hybrid capture for somatic mutation detection in the clinic / Catherine E. Cottrell, Andrew J. Bredemeyer and Hussam Al-Kateb
Somatic diseases (cancer): whole exome and whole genome sequencing / Jennifer K. Sehn
Assay validation / Amy S. Gargis, Lisa Kalman and Ira M. Lubin
Regulatory considerations related to clinical next generation sequencing / Shashikant Kulkarni and John Pfeifer
Genomic reference materials for clinical applications / Justin Zook and Marc Salit
Ethical challenges to next-generation sequencing / Stephanie Solomon
Legal issues / Roger D. Klein
Billing and reimbursement / Kris Rickhoff, Andrew Drury and John Pfeifer.